COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.

Imaging mimickers of MSK infection.

Along with clinical and laboratory findings, imaging has a significant role in the initial evaluation and treatment follow-up of a wide variety of infectious and non-infectious musculoskeletal (MSK) conditions. The imaging findings of many non-infectious MSK processes, such as inflammatory, metabolic, and degenerative arthropathies, complications of diabetes mellitus, osseous and soft tissue injuries, osteonecrosis, tumors, and tumor-like lesions may be nonspecific and often overlap with those found in MSK infections. In this article, the authors discuss the imaging findings of both frequent and rare mimickers of MSK infections, including potential distinguishing characteristics.

Microglial-derived C1q integrates into neuronal ribonucleoprotein complexes and impacts protein homeostasis in the aging brain.

Neuroimmune interactions mediate intercellular communication and underlie critical brain functions. Microglia, CNS-resident macrophages, modulate the brain through direct physical interactions and the secretion of molecules. One such secreted factor, the complement protein C1q, contributes to complement-mediated synapse elimination in both developmental and disease models, yet brain C1q protein levels increase significantly throughout aging.

Bat species assemblage predicts coronavirus prevalence.

Anthropogenic disturbances and the subsequent loss of biodiversity are altering species abundances and communities. Since species vary in their pathogen competence, spatio-temporal changes in host assemblages may lead to changes in disease dynamics. We explore how longitudinal changes in bat species assemblages affect the disease dynamics of coronaviruses (CoVs) in more than 2300 cave-dwelling bats captured over two years from five caves in Ghana.

Ultrasound versus MRI in the evaluation of the thumb metacarpophalangeal joint.

An intricate and unique combination of ligamentous, fibrocartilaginous, and osseous structures stabilize the thumb metacarpophalangeal joint. Both ultrasound and high-resolution magnetic resonance imaging are extremely useful in evaluating these critical structures. This article reviews common injuries of the thumb metacarpophalangeal joint, while highlighting the merits, limitations, and pitfalls of the two imaging modalities.

Evaluation of the knee joint with ultrasound and magnetic resonance imaging.

The knee joint relies on a combination of deep and superficial structures for stability and function. Both ultrasound and high-resolution magnetic resonance imaging are extremely useful in evaluating these structures and associated pathology. This article reviews a combination of critical anatomic structures, joint abnormalities, and pathologic conditions at the knee joint, while highlighting the merits, limitations, and pitfalls of the two imaging modalities.

Individuals of a group-living shorebird show smaller home range overlap when food availability is low.

Background: Group living animals, such as shorebirds foraging on intertidal mudflats, may use social information about where to find hidden food items. However, flocking also increases intraspecific competition for resources, which may be exacerbated by food scarcity. Therefore, although aggregation may bring benefits, it may also increase the intensity of intraspecific competition.

Effects of anthropogenic landscapes on population maintenance of waterbirds.

Anthropogenic impacts have reduced natural areas but increased the area of anthropogenic landscapes. There is debate about whether anthropogenic landscapes (e.g.

Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.

Vesicles that are coated by coat protein complex II (COPII) are the primary mediators of vesicular traffic from the endoplasmic reticulum to the Golgi apparatus. Secretion-associated Ras-related GTPase 1 (SAR1) is a small GTPase that is part of COPII and, upon GTP binding, recruits the other COPII proteins to the endoplasmic reticulum membrane. Mammals have two SAR1 paralogs that genetic data suggest may have distinct physiological roles, in lipoprotein secretion in the case of SAR1B.

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.

Discovery of genotype-phenotype relationships remains a major challenge in clinical medicine. Here, we combined three sources of phenotypic data to uncover a new mechanism for rare and common diseases resulting from collagen secretion deficits. Using a zebrafish genetic screen, we identified the ric1 gene as being essential for skeletal biology.

Time of year, age class and body condition predict Hendra virus infection in Australian black flying foxes (Pteropus alecto).

Hendra virus (HeV) continues to cause fatal infection in horses and threaten infection in close-contact humans in eastern Australia. Species of Pteropus bats (flying-foxes) are the natural reservoir of the virus. We caught and sampled flying-foxes from a multispecies roost in southeast Queensland, Australia on eight occasions between June 2013 and June 2014.

Morphological and digestive adjustments buffer performance: How staging shorebirds cope with severe food declines.

Organisms cope with environmental stressors by behavioral, morphological, and physiological adjustments. Documentation of such adjustments in the wild provides information on the response space in nature and the extent to which behavioral and bodily adjustments lead to appropriate performance effects. Here we studied the morphological and digestive adjustments in a staging population of migrating Great Knots in response to stark declines in food abundance and quality at the Yalu Jiang estuarine wetland (northern Yellow Sea, China).

Multiple habitat use by declining migratory birds necessitates joined-up conservation.

Many species depend on multiple habitats at different points in space and time. Their effective conservation requires an understanding of how and when each habitat is used, coupled with adequate protection. Migratory shorebirds use intertidal and supratidal wetlands, both of which are affected by coastal landscape change.

Changes in area and number of nature reserves in China.

Nature reserves (NR) are the cornerstone of biodiversity conservation. Over the past 60 years, the rapid expansion of NRs in China, one of the world's megadiverse countries, has played a critical role in slowing biodiversity loss. We examined the changes in the number and area of China's NRs from 1956 to 2014 and analyzed the effect of economic development on the expansion of China's NRs from 2005 to 2014 with linear models.

The ULK1-FBXW5-SEC23B nexus controls autophagy.

In response to nutrient deprivation, the cell mobilizes an extensive amount of membrane to form and grow the autophagosome, allowing the progression of autophagy. By providing membranes and stimulating LC3 lipidation, COPII (Coat Protein Complex II) promotes autophagosome biogenesis. Here, we show that the F-box protein FBXW5 targets SEC23B, a component of COPII, for proteasomal degradation and that this event limits the autophagic flux in the presence of nutrients.

Fatty-acid binding protein 5 modulates the SAR1 GTPase cycle and enhances budding of large COPII cargoes.

COPII-coated vesicles are the primary mediators of ER-to-Golgi trafficking. Sar1, one of the five core COPII components, is a highly conserved small GTPase, which, upon GTP binding, recruits the other COPII proteins to the ER membrane. It has been hypothesized that the changes in the kinetics of SAR1 GTPase may allow for the secretion of large cargoes.

The nutritional nexus: Linking niche, habitat variability and prey composition in a generalist marine predator.

Our understanding of the niche concept will remain limited while the quantity and range of different food types eaten remain a dominant proxy for niche breadth, as this does not account for the broad ecological context that governs diet. Linking nutrition, physiology and behaviour is critical to predict the extent to which a species adjusts its nutritional niche breadth at the levels of prey ("prey composition niche," defined as the range of prey compositions eaten) and diet ("realized nutritional niche" is the range of diets composed through feeding on the prey). Here, we studied adult chick-rearing Australasian gannets Morus serrator to propose an integrative approach using sea surface temperature anomalies (SSTa), geographic location and bathymetry over different years, to explore their relationship with the nutritional composition of prey and diets (i.

Speciation, range contraction and extinction in the endemic New Zealand King Shag complex.

New Zealand's endemic King Shag (Leucocarbo carunculatus) has occupied only a narrow portion of the northeastern South Island for at least the past 240years. However, pre-human Holocene fossil and archaeological remains have suggested a far more widespread distribution of the three Leucocarbo species (King, Otago, Foveaux) on mainland New Zealand at the time of Polynesian settlement in the late 13th Century CE. We use modern and ancient DNA, and morphometric and osteological analyses, of modern King Shags and Holocene fossil Leucocarbo remains to assess the pre-human distribution and taxonomic status of the King Shag on mainland New Zealand, and the resultant conservation implications.

Shear-Wave Elastography: Basic Physics and Musculoskeletal Applications.

In the past 2 decades, sonoelastography has been progressively used as a tool to help evaluate soft-tissue elasticity and add to information obtained with conventional gray-scale and Doppler ultrasonographic techniques. Recently introduced on clinical scanners, shear-wave elastography (SWE) is considered to be more objective, quantitative, and reproducible than compression sonoelastography with increasing applications to the musculoskeletal system. SWE uses an acoustic radiation force pulse sequence to generate shear waves, which propagate perpendicular to the ultrasound beam, causing transient displacements.

Rapid population decline in migratory shorebirds relying on Yellow Sea tidal mudflats as stopover sites.

Migratory animals are threatened by human-induced global change. However, little is known about how stopover habitat, essential for refuelling during migration, affects the population dynamics of migratory species. Using 20 years of continent-wide citizen science data, we assess population trends of ten shorebird taxa that refuel on Yellow Sea tidal mudflats, a threatened ecosystem that has shrunk by >65% in recent decades.

TANGO1 assembles into rings around COPII coats at ER exit sites.

TANGO1 (transport and Golgi organization 1) interacts with CTAGE5 and COPII components Sec23/Sec24 and recruits ERGIC-53 (endoplasmic reticulum [ER]-Golgi intermediate compartment 53)-containing membranes to generate a mega-transport carrier for export of collagens and apolipoproteins from the ER. We now show that TANGO1, at the ER, assembles in a ring that encircles COPII components. The C-terminal, proline-rich domains of TANGO1 molecules in the ring are initially tilted onto COPII coats but appear to be pushed apart as the carrier grows.

Ultrasound Evaluation of Morton Neuroma Before and After Laser Therapy.

Objective: The objective of our study was to retrospectively assess for differences in imaging appearances of Morton neuromas before and after laser therapy using diagnostic ultrasound (US).

Materials And Methods: A retrospective review was performed to identify patients who underwent US imaging to evaluate for Morton neuroma during the study period (June 1, 2013-July 1, 2014); of the 42 patients identified, 21 underwent US evaluations before and after laser therapy. US reports and images were reviewed and correlated with clinical history.

Normal Magnetic Resonance Imaging Anatomy of the Capsular Ligamentous Supporting Structures of the Knee.

Recognition of the normal magnetic resonance (MR) imaging appearances of the capsular ligaments of the knee is of great importance. These ligaments contribute to stability of the knee joint and are frequently injured. In this article, we describe the normal MR imaging anatomy of the capsular ligaments of the knee including the lateral and medial collateral ligamentous complexes, the extensor mechanism, and the supporting ligamentous structures of the proximal tibiofibular joint.